Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 7 0.17 3 5.1E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		15 21 4 0.13 1 2.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 5 0.11 4 7.4E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 4 0.11 4 9.1E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		12 14 3 0.11 1 2.8E-02
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		2 0 2 0.11 0 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		2 11 2 0.11 1 3.0E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 3 0.10 4 0.11
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 5 0.10 4 6.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 6 0.10 5 6.0E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		15 21 3 9.7E-02 5 0.13
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 3 9.7E-02 2 5.7E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		4 4 2 9.5E-02 1 3.8E-02
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		4 5 2 9.5E-02 2 7.7E-02
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		4 3 2 9.5E-02 1 4.0E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 6 9.5E-02 3 3.8E-02
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		4 264 2 9.5E-02 2 7.0E-03
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		5 6 2 9.1E-02 3 0.12
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		5 0 2 9.1E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 4 2 9.1E-02 1 3.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 6 8.7E-02 2 2.4E-02
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 0 2 8.3E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 8 8.1E-02 5 4.0E-02
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		8 8 2 8.0E-02 1 3.3E-02
CUI: C0563243
Disease: Poor coordination
Poor coordination 		8 8 2 8.0E-02 1 3.3E-02